G93D (p.Gly93Asp) variant of ITGA2B (Integrin alpha-IIb)
G93D (p.Gly93Asp) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G93D (p.Gly93Asp) variant details
- p.Gly93Asp
- TOPMed rs1046721325
- gnomAD rs1046721325
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.32
- MetaLR 0.65
- MetaSVM -0.19
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available